Family testing update - MTHFR

After learning about MTHFR, I wrote a book proposal and my agent started to shop it around to health-book publishers. None had heard of MTHFR. Probably because it's a new factor in understanding health issues. 

Speaking of most folks not knowing about it, even though it can affect as many as 10-20% of folks, my son tested homozygous for the C677TT mutation. So I’m sending him the methylfolate vitamins, hoping it’s the right amount. None of the docs in Muncie knew much about it. Since he's homozygous, that means that his dad also has the mutation and he's mpw getting tested to discover the specifics.

Which leads me to my best friend. He has the characteristic elevated homocystine levels associated with methylation deficiencies and only one gene of the C677T so he’s heterozygous. This means it came from only one parent. Often folks with heterozygous mutations don’t show any symptoms, but my best friend does. MTHFR is only one aspect of a person’s genetic expression. Environmental factors, known as epigenetic factors are important, too. 

Epigenetic factors include lifestyle – what you eat, where you live, if you exercise, if you get enough sleep, if you use alcohol and/or either prescription or recreational drugs, and more. The epigenetic factors are usually within our control. 

As for me, a couple notable results. I have tons more energy. I seldom need naps and am now putting my energy into some house stuff, joining the Copper Club at the Natural History Museum (took a field trip down to Kanab, Utah last weekend and DID NOT return home from 3 intense days feeling like a wrung-out washcloth. A super win.) My fingernails are growing really fast, which means my metabolism is revving up.  My vision is amazingly clear. My allergies are revving down and this is high-allergy season in our valley. My moods are almost sprightly. So all good. And the heavy moods haven’t visited since I started on the Methylfolate – 7 weeks ago.

To read lots about this, the go-to website is www.MTHFR.net.

Letter to Family on MTHFR

This is the letter I sent to my brothers and sisters and the father of my son:

HI, Everyone, 

Yesterday I received a stunningly odd piece of information that affects all of us. Yes, I know you’re wondering, “ huh?”

A week or so ago at my annual physical, my doc wanted to add an additional blood test, the results of which she thought could give us additional information about why my year-long allergy elimination (LDA) program has only been so-so successful. As a side note, in the past year, I have been off all sugar (think chocolate candy), gluten, dairy - so you know I’ve been truly committed to getting rid of these allergies.

The results of my standard blood test was great  - thanks to those great genes from Mom and Dad. Except for that odd blood test. Turns out the test was for thrombophilia risk - a genetics test.

My results - I have a genetic mutation called, MTHFR Gene C677T as being “TT; homozygous”. Homozygous means that I received the gene mutation from both Mom and Dad, which means that you have a 75% or higher chance of having it too. My son definitely has the heterozygous mutation - one gene from me - and perhaps homozygous if his dad also gave him the gene.

This mutation explains a plethora of things that seem to run in our family: addictions, serious chocolate cravings, many allergies, mood swings, gluten intolerance (different from celiac disease), hypersensitivity, and so much more. Over the years, I’ve been put on  SSRI’s, depakote, thyroid meds, tryptophan, prayer, meditation, and a wide variety of natural remedies - none of which offered much improvement from what I think of as general anxiety and hypersensitivity.  The mutation taxes the liver lots so that explains why I love Hot Yoga - the heat coupled with yoga detoxes the liver, and it explains why we own an infrared sauna that I I use as a “pick-me-up” when I feel sluggish. Also why I crave fresh veggies - again, they help detox the liver. And chocolate somehow helps with the symptoms of this mutation. The darker the better.

Biochemically, the mutation disrupts the very important methylation cycle. This affects liver function, the normal production of brain chemicals such as serotonin, and potentially causes many serious and mild health conditions. A person who has this mutation must stop taking any vitamin supplements that contain B12 in the form of cyanocobalamine, but it’s great to take B12 as methylcobalamine. Also no folic acid in supplements.

The good news is that a person can dramatically improve their health and often eliminate the symptoms by taking specific vitamins. For the next week or so, my doc has me on an over-the-counter supplement called “Methyl CpG” plus an RX called “deplin” which is L-methylfolate. After one day, I can’t attest to much change yet, but my vision has gotten surprisingly clearer. 

This mutation could explain Mom’s fatigue and discomfort (especially if the docs were treating her anemia - which is a symptom of MTHFR - with the cyano form of B12) and it probably goes a long way to explaining the alcoholism in our family.

I have immense joy and hope that a protocol similar to mine could be helpful for my son and could lessen his learning disabilities. That would be a dream come true. So he’ll be tested soon and I’ll keep you up to date on his experiences as well as mine.

If you are having some of symptoms of this mutation, I suggest you check out the info I added to the bottom of this email and get a blood test. There’s a list of docs who treat this mutation on a very informative website, www.MTHFR.net. And if you google MTHFR C667T, you can learn lots about MTHFR.

I have odd feelings about all this. On the one hand, my health, energy, brain chemistry puzzle could be solved. Yeah! And I no longer need to feel guilty about having these odd symptoms and allergies. And it’s strange to write you a letter with this information. I care about all of you lots, even though you may not be aware that I do.

I wish you great joy and love,

MTHFR - Involving my family

After receiving my blood test results, I shared them with my four siblings, my son, and ex-husband. Only one brother chose to get tested. He also has the mutation and is on supplementation.

My adult son has the homozygous C667T mutation like I do. Getting him on supplementation is challenging due to family politics. However, I'm relieved to know why he has learning disabilities and anxiety. It's taken the burden off of me, in an interesting way. Homozygoud means that my son received one mutation from me and one from his Dad. So, fingers crossed, in the next couple months or so, in the next couple month, family issues will get resolved and he'll be taking the supplementation.

My ex-husband had to have at least one mutation since my son was homozygous, and, indeed, he does. So he's now on methyl folate recommended by his doctor.

My spouse's doc recommended he have the blood test and the results show he's heterozygous. He's taking Methyl-Pro 15 plus 5000 methyl B12 as his body seems to need more than mine does. He seems happier, more creative, and is more energetic. Which is fun for me.

We then had one of his sons tested who turned out to be heterozygous. I sent him the same products I'm taking. He has what could be deemed IBS and anxiety so it will be interesting to see if the supplementation aids his overall health. Right now, we're having the other two sons tested at www.23andme.com.

I need to tell you that everyone I've mentioned above have wonderful and endearing personalities. As best I know. So I'm hoping for health and well being successes, not for major life-changing results. Should that happen, that would be fine, too.

MTHFR C667T - taking Methyl Folate and methyl B12

Three and one-half months have passed. I've been methylating and having amazing results. I take a nutritional supplement, Methyl CpG,with breakfast. I has 2000 mcg of methyl folate and 1000 mcg methyl B12. in the evening I take Thorne Basic B which contains 400 mcg methyl folate and 200 mcg methyl B12 plus additional B vitamins. If I start feeling that deep exhaustion, I'll add about 1250 mcg methyl B12 lozenge. I break up a 5000 mcg tab into 4 pieces and let one peice dissolve under my tongue.

It took a week or so figure out how much to take. My doc gave me a sample of the prescription drug, Deplin 15. I took one a day, I was flying my the end of day 3. I was looney. Playing bridge with some friends, I just couldn't focus. Too much Deplin was weird. Everyone noticed. But I didn't do anything extreme or peculiar. The next day I cut back to the Methyl CpG and seemed to find a balance.

My doc told me I didn't need much. She was so right.

In the past 14 weeks, here are the results I've seen:

• Not feeling the deep exhaustion.
• Seldom take naps, whereas before methylation supplementation I was taking 2-3 hour naps 2-4 days a week. I may still nap at times, but only 20-30 minutes 1-2 days a week.
• My vision has dramatically improved. At the eye doctor's, I can read two lines lower than I did last year. I find this amazing.
• Not as anxious. One day I missed taking my morning supplement and began to feel that old familiar body agitation and anxiety. But fortunately, within 20 minutes of taking methyl folate, I was back to my MTHFR-adjusted self.
• Stayed awake and active with dinner guests until 11 pm. I only yawned once and didn't feel drained, anxious, and eager for them to say their goodbyes.
• I approach day-to-day chores with calm and clarity. 
• I no longer feel overwhelmed by too much to do.
• I am setting up more social activities for us than before. I now have the energy and interest to go out 3-5 nights a week. Before methylation 2 nights a week was max. My husband loves to socialize and to go places, so he's more content. And I'm finding that I love it.
• My hair is growing faster, so are my fingernails.
• Had white bumps on upper arms for years - like whitheads - they're gone.
• More muscle tone and stamina.

As I read back through my journal, my body took a while - between 2-3 months to adjust. plus my brain and being have taken a while to adjust to methylation. I had ups and downs, doubt and reassurances. But today, I'm quite pleased. And joyous.

Whoa, I have the MTHFR genetic mutation

That extra blood test my doc ordered at my annual physical changed things. Her keen intuition led me to happier health. But it also explained so many things I’d wondered about for years.

Why was I so often and inexplicably tired? Why had my upper arms had white bumps, that were similar to whiteheads continually throughout my life? Why couldn’t I use laughing gas in the dentist’s chair without getting totally loony and paranoid? Why did I love chocolate so very much? Why did my body seem to need so many nutritional supplements? And why was my son born with learning disabilities and a plethora of food allergies? What gave him continual ear infections and eczema? Why was he so delayed learning to walk, talk, and ride a bike?

My test results for the MTHFR mutations blood test were homozygous C677TT. Homozygous indicated I received one such gene from my mother and one from my father. MTHFR mutation means that I have methylation deficiency. In short, my metabolism wasn’t working correctly and some of the supplements I took were actually making it worse. My impaired metabolic functions were stressing my liver. It needed to be detoxed. I had to toss supplements that contained folate and/or the cyanocobalamin form of B12. In their place, I was to take L-methylfolate and B12 as methylcobalamin.

I didn’t need a doctor’s prescription or many more doctor visits. Information on methyl deficiency abounds on the Internet. Google pulls up answers to any question I had.

I was unprepared for the flood of information. I spent the hours on the Web to learn all I could. Chances were good, I thought, that my son, Brian, had the mutation, too. I needed to get him tested.

Once I accommodated my mind and emotions to the news, I sent a letter to my 4 siblings: 

Hi, Everyone,

 Yesterday I received a stunningly odd piece of information that affects all of us. Yes, I know you’re wondering, “ huh?”

 A week or so ago at my annual physical, my doc wanted to add an additional blood test, the results of which she thought could provide additional information about why my year-long allergy elimination (LDA) program has been only so-so successful. As a side note, in the past year, I have been off all sugar (think chocolate candy), gluten, dairy - so you know I’ve been truly committed to getting rid of these annoying allergies and chemical sensitivities.

 The results of my standard blood test was great  - thanks to those great genes from Mom and Dad. Except for that odd blood test. Turns out the test was for thrombophilia risk - a genetics test.

My results - I have a genetic mutation called, MTHFR Gene C677T, as being “TT; homozygous”. Homozygous means that I received the gene mutation from both Mom and Dad, which means that you have a 75% or higher chance of having it too. My son, Brian, definitely has the heterozygous mutation - one gene from me - and perhaps homozygous if his dad, Bob, also gave him the C677T mutation. If Bob has the A1298C mutation, Brian could have 2 different mutations of MTHFR.

 This mutation explains a plethora of things that seem to run in our family: addictions, serious chocolate cravings, many allergies, mood swings, gluten intolerance (different from celiac disease), hypersensitivity, and so much more. Over the years, I’ve been put on Prozac (and other SSRI’s), depakote, thyroid meds, tryptophan, prayer, meditation, and a wide variety of natural remedies - none of which offered improvement from what I think of as general anxiety and hypersensitivity.  The mutation taxes the liver lots so that explains why I love Hot Yoga - the heat coupled with yoga detoxes the liver, and it explains why years ago we purchased an infrared sauna that I use as a “pick-me-up” when feeling sluggish. Also why I crave fresh veggies - again, they help detox the liver. And chocolate somehow helps with the symptoms of this mutation. The darker the better, as we all know. The mutation explains how I can have osteopenia although I exercise avidly 3-4 times weekly, why I’m unable to use laughing gas – nitric oxide at the dentists, and why my muscles cramp and my joints often ache.

 Biochemically, the mutation disrupts the very important methylation cycle. This affects liver function, the normal production of brain chemicals such as serotonin, and potentially causes many serious and mild health conditions. A person who has this mutation must stop taking any vitamin supplements that contain folic acid and B12 in the form of cyanocobalamine, but it’s great to take B12 as methylcobalamine.

 The good news is that a person can dramatically improve their health and often eliminate the symptoms by taking specific vitamin formulations. For the next week or so, my doc has me on an over-the-counter supplement called “Methyl CpG” plus an Rx called “deplin” which is L-methylfolate. After one day, I can’t attest to much change, but my vision has gotten surprisingly clearer. I ordered special daily vitamins to treat MTHFR from Hardy Nutritionals which I think is in Canada.

This mutation could explain Mom’s fatigue, anemia, and discomfort (especially if the docs were treating her anemia - which is a symptom of MTHFR - with the cyano form of B12) and it probably goes a long way to explaining Dad’s alcoholism as well as that of other family members.

I have immense joy and hope that a protocol similar to mine could be helpful for Brian and could lessen his learning disabilities and mood swings. That would be a dream come true. Both he and his Dad will be tested soon and I’ll keep you up to date on Brian’s experiences as well as mine.

If you are having some of symptoms of this mutation, I suggest you get a blood test. There’s a list of docs who treat this mutation on a very informative website, www.MTHFR.net. And if you google MTHFR C667T, you can learn lots about MTHFR.

I have odd feelings about all this. On the one hand, my health, energy, brain chemistry puzzle could be solved. Yeah! And I no longer need to feel guilty about having these odd symptoms and allergies. And it’s strange to write you a letter with this information. I care about all of you lots.

I wish you great joy and love,

 Lucy